IllnessSynspondylism
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Synspondylism
ID
SS0891
Number of genes
1
Accredited laboratory test
Examined sequence length
7,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
FLNB | 7809 | AD, AR |
Informations about the disease
Clinical Comment
Spondylodysplasic dysplasia with postnatal progressive vertebral fusions (block vertebrae), shortened trunk, disproportionate short stature, scoliosis, lordosis, carpal + tarsal synostosis (club feet)
Synonyms
- Alias: Spondylo-karpo-tarsale Synostose
- Alias: Spondylocarpotarsal syndrome
- Allelic: Atelosteogenesis, type I + III (FLNB)
- Allelic: Boomerang dysplasia
- Allelic: Larsen syndrome
- Spondylocarpotarsal synostosis (syndrome)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
Q76.4
Bioinformatics and clinical interpretation
No text defined